NEXN variants in ExAC

NEXN gene summary
NEXN variants in DCM, HCM

The table below lists the NEXN variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 78392446 c.733G>A p.G245R missense 0.18458650●●●●●●
2. 78395131 c.995A>C p.E332A missense 0.00400027●●●●●●
3. 78401664 c.1408G>C p.E470Q missense 0.00083393●●●●●●
4. 78392121 c.512T>C p.I171T missense 0.00068370●●●●●●
5. 78392548 c.835C>T p.R279C missense 0.00059451●●●●●●
6. 78407852 c.1618A>G p.M540V missense 0.00042530●●●●●●
7. 78408155 c.1669_1674delGAGGAG p.Glu557_Glu558delinsdel inframe 0.00028527●●●●●●
8. 78407816 c.1582G>C p.E528Q missense 0.00026781●●●●●●
9. 78395085 c.949A>C p.M317L missense 0.00025826●●●●●●
10. 78408274 c.1788T>G p.S596R missense 0.00025751●●●●●●
11. 78401498 c.1252-10T>G splice site 0.00025471●●●●●●
12. 78407806 c.1572_1574delAGA p.R524_E525delinsR inframe 0.00021805●●●●●●
13. 78392222 c.613G>A p.E205K missense 0.00019083●●●●●●
14. 78401672 c.1416_1418delAAG p.A472_R473delinsA inframe 0.00018341●●●●●●
15. 78395164 c.1028C>T p.A343V missense 0.00016582●●●●●●
16. 78395104 c.968A>G p.E323G missense 0.00015027●●●●●●
17. 78401657 c.1401_1403delAGA p.Glu470del inframe 0.00014183●●●●●●
18. 78408431 c.1945_1947delGGA p.G649del1 inframe 0.00013341●●●●●●
19. 78395123 c.987_989delAGA p.Glu332del inframe 0.00012529●●●●●●
20. 78392569 c.856C>T p.R286W missense 0.00010075●●●●●●
21. 78408441 c.1955A>G p.Y652C missense 0.00010010●●●●●●
22. 78401691 c.1435C>T p.L479F missense 0.00010001●●●●●●
23. 78395029 c.893C>G p.T298R missense 0.00009984●●●●●●
24. 78394996 c.865-5G>A splice site 0.00009207●●●●●●
25. 78392300 c.687+4A>T splice site 0.00009123●●●●●●
26. 78395053 c.917G>A p.R306H missense 0.00008319●●●●●●
27. 78392195 c.586C>T p.R196C missense 0.00008306●●●●●●
28. 78392304 c.687+8_687+11delTTTG splice site 0.00007465●●●●●●
29. 78401558 c.1302delG p.Ile435SerfsTer3 frameshift 0.00006717●●●●●●
30. 78392243 c.634T>A p.Y212N missense 0.00006634●●●●●●
31. 78399025 c.1112C>T p.P371L missense 0.00006133●●●●●●
32. 78399103 c.1190G>A p.R397Q missense 0.00005976●●●●●●
33. 78383398 c.175G>A p.E59K missense 0.00005843●●●●●●
34. 78401709 c.1453G>A p.E485K missense 0.00005008●●●●●●
35. 78407874 c.1640T>C p.I547T missense 0.00005007●●●●●●
36. 78392225 c.616G>A p.E206K missense 0.00004977●●●●●●
37. 78383875 c.364G>C p.E122Q missense 0.00004969●●●●●●
38. 78407718 c.1484T>C p.V495A missense 0.00003903●●●●●●
39. 78407723 c.1489G>A p.V497I missense 0.00003831●●●●●●
40. 78390892 c.467C>T p.T156M missense 0.00003344●●●●●●
41. 78408444 c.1958T>C p.M653T missense 0.00003338●●●●●●
42. 78407870 c.1636G>C p.E546Q missense 0.00003337●●●●●●
43. 78401671 c.1415C>G p.A472G missense 0.00003335●●●●●●
44. 78401686 c.1430T>C p.I477T missense 0.00003334●●●●●●
45. 78383380 c.157G>A p.E53K missense 0.00003331●●●●●●
46. 78392391 c.688-10G>A splice site 0.00003320●●●●●●
47. 78383891 c.380G>A p.R127H missense 0.00003313●●●●●●
48. 78383903 c.392A>G p.Q131R missense 0.00003313●●●●●●
49. 78383890 c.379C>T p.R127C missense 0.00003313●●●●●●
50. 78383873 c.362C>T p.T121M missense 0.00003313●●●●●●
51. 78381796 c.5_7delATG p.N2_D3delinsN inframe 0.00002908●●●●●●
52. 78399001 c.1088C>G p.T363R missense 0.00002723●●●●●●
53. 78408483 c.1997C>A p.T666N missense 0.00002539●●●●●●
54. 78401727 c.1471G>C p.E491Q missense 0.00002524●●●●●●
55. 78394992 c.865-9T>C splice site 0.00002515●●●●●●
56. 78401572 c.1316G>A p.R439K missense 0.00002514●●●●●●
57. 78392548 c.835C>A p.R279S missense 0.00002512●●●●●●
58. 78392531 c.818G>A p.R273H missense 0.00002508●●●●●●
59. 78407859 c.1625T>G p.F542C missense 0.00002502●●●●●●
60. 78407849 c.1615C>T p.R539C missense 0.00002502●●●●●●
61. 78401667 c.1411C>T p.R471X nonsense 0.00002502●●●●●●
62. 78392496 c.783C>G p.N261K missense 0.00002501●●●●●●
63. 78408378 c.1892T>C p.I631T missense 0.00002499●●●●●●
64. 78408380 c.1894G>C p.E632Q missense 0.00002499●●●●●●
65. 78395038 c.902T>A p.I301N missense 0.00002495●●●●●●
66. 78408304 c.1818_1820delAGG p.Gly607del inframe 0.00002494●●●●●●
67. 78383294 c.71C>T p.P24L missense 0.00002493●●●●●●
68. 78383329 c.106G>A p.E36K missense 0.00002490●●●●●●
69. 78392229 c.620A>G p.D207G missense 0.00002489●●●●●●
70. 78383637 c.220-8delC splice site 0.00002488●●●●●●
71. 78395187 c.1051A>G p.M351V missense 0.00002487●●●●●●
72. 78383667 c.242A>T p.D81V missense 0.00002487●●●●●●
73. 78383927 c.416T>C p.I139T missense 0.00002485●●●●●●
74. 78383881 c.370G>A p.E124K missense 0.00002484●●●●●●
75. 78398983 c.1070C>T p.S357F missense 0.00001946●●●●●●
76. 78408505 c.2019T>A p.S673R missense 0.00001797●●●●●●
77. 78408498 c.2012T>C p.I671T missense 0.00001744●●●●●●
78. 78399139 c.1226A>C p.E409A missense 0.00001742●●●●●●
79. 78399136 c.1223T>G p.F408C missense 0.00001735●●●●●●
80. 78407762 c.1528A>G p.K510E missense 0.00001718●●●●●●
81. 78407763 c.1529A>G p.K510R missense 0.00001716●●●●●●
82. 78401516 c.1260A>T p.E420D missense 0.00001709●●●●●●
83. 78399099 c.1186G>A p.E396K missense 0.00001705●●●●●●
84. 78408482 c.1996A>G p.T666A missense 0.00001692●●●●●●
85. 78408148 c.1662A>G splice site 0.00001683●●●●●●
86. 78408155 c.1669_1671delGAG p.Glu560del inframe 0.00001678●●●●●●
87. 78392561 c.848A>T p.E283V missense 0.00001677●●●●●●
88. 78392549 c.836G>A p.R279H missense 0.00001675●●●●●●
89. 78407886 c.1652T>C p.L551P missense 0.00001671●●●●●●
90. 78407829 c.1595T>C p.I532T missense 0.00001670●●●●●●
91. 78408443 c.1957A>G p.M653V missense 0.00001669●●●●●●
92. 78395127 c.991G>T p.Glu331Ter nonsense 0.00001668●●●●●●
93. 78401701 c.1445A>G p.K482R missense 0.00001668●●●●●●
94. 78383387 c.164A>G p.Q55R missense 0.00001666●●●●●●
95. 78408375 c.1889A>G p.Y630C missense 0.00001666●●●●●●
96. 78408384 c.1898G>C p.R633T missense 0.00001666●●●●●●
97. 78408341 c.1855G>A p.G619R missense 0.00001664●●●●●●
98. 78408345 c.1859A>G p.E620G missense 0.00001664●●●●●●
99. 78395052 c.916C>A p.R306S missense 0.00001664●●●●●●
100. 78392161 c.552A>C p.K184N missense 0.00001663●●●●●●
101. 78395047 c.911G>T p.G304V missense 0.00001663●●●●●●
102. 78395042 c.906T>A p.F302L missense 0.00001663●●●●●●
103. 78408291 c.1805C>T p.T602M missense 0.00001662●●●●●●
104. 78408239 c.1753_1755delAAG p.Lys585del inframe 0.00001662●●●●●●
105. 78408219 c.1733G>C p.R578T missense 0.00001662●●●●●●
106. 78408257 c.1771A>G p.T591A missense 0.00001662●●●●●●
107. 78408264 c.1778T>C p.V593A missense 0.00001661●●●●●●
108. 78392441 c.728C>G p.S243C missense 0.00001661●●●●●●
109. 78392431 c.718delG p.Glu240AsnfsTer8 frameshift 0.00001660●●●●●●
110. 78392289 c.680T>C p.L227S missense 0.00001658●●●●●●
111. 78383672 c.247G>A p.E83K missense 0.00001658●●●●●●
112. 78383647 c.222T>C splice site 0.00001658●●●●●●
113. 78395166 c.1030T>C p.F344L missense 0.00001658●●●●●●
114. 78395190 c.1053+1G>A essential splice site 0.00001658●●●●●●
115. 78383807 c.299-3T>C splice site 0.00001658●●●●●●
116. 78383675 c.250G>A p.E84K missense 0.00001658●●●●●●
117. 78383933 c.422G>A p.R141H missense 0.00001657●●●●●●
118. 78383821 c.310G>A p.G104S missense 0.00001657●●●●●●
119. 78383825 c.314G>C p.R105T missense 0.00001657●●●●●●
120. 78381815 c.24_27+1delTGAGG essential splice site 0.00001047●●●●●●
121. 78407715 c.1481A>T p.D494V missense 0.00000987●●●●●●
122. 78407717 c.1483G>A p.V495I missense 0.00000980●●●●●●
123. 78407718 c.1484T>A p.V495D missense 0.00000976●●●●●●
124. 78381792 c.1A>C p.Met1? missense 0.00000967●●●●●●
125. 78398986 c.1073C>T p.P358L missense 0.00000955●●●●●●
126. 78398997 c.1084A>C p.K362Q missense 0.00000916●●●●●●
127. 78408509 c.2023_2026delAATT p.X676HisfsX9 frameshift 0.00000909●●●●●●
128. 78399153 c.1240G>C p.E414Q missense 0.00000897●●●●●●
129. 78399007 c.1094C>G p.S365C missense 0.00000896●●●●●●
130. 78407744 c.1510G>A p.E504K missense 0.00000889●●●●●●
131. 78399012 c.1099G>A p.E367K missense 0.00000887●●●●●●
132. 78407745 c.1511A>G p.E504G missense 0.00000886●●●●●●
133. 78399147 c.1234A>G p.R412G missense 0.00000880●●●●●●
134. 78399140 c.1227A>T p.E409D missense 0.00000873●●●●●●
135. 78399030 c.1117A>C p.K373Q missense 0.00000873●●●●●●
136. 78399138 c.1225G>C p.E409Q missense 0.00000871●●●●●●
137. 78399131 c.1218A>C p.Q406H missense 0.00000863●●●●●●
138. 78399130 c.1217_1219delAAG p.Glu407del inframe 0.00000862●●●●●●
139. 78399075 c.1162G>T p.E388X nonsense 0.00000857●●●●●●
140. 78408491 c.2005C>T p.L669F missense 0.00000856●●●●●●
141. 78399113 c.1200G>C p.K400N missense 0.00000855●●●●●●
142. 78399076 c.1163A>G p.E388G missense 0.00000855●●●●●●
143. 78399084 c.1171C>T p.R391X nonsense 0.00000855●●●●●●
144. 78408488 c.2002A>G p.I668V missense 0.00000854●●●●●●
145. 78399085 c.1172G>A p.R391Q missense 0.00000854●●●●●●
146. 78399108 c.1195C>A p.H399N missense 0.00000854●●●●●●
147. 78399087 c.1174C>T p.R392X nonsense 0.00000854●●●●●●
148. 78399098 c.1185G>T p.E395D missense 0.00000853●●●●●●
149. 78399102 c.1189C>T p.R397W missense 0.00000853●●●●●●
150. 78407769 c.1535A>G p.N512S missense 0.00000853●●●●●●
151. 78383249 c.28-2A>G essential splice site 0.00000850●●●●●●
152. 78401527 c.1271C>T p.T424I missense 0.00000849●●●●●●
153. 78408480 c.1994G>A p.S665N missense 0.00000844●●●●●●
154. 78408480 c.1994G>T p.S665I missense 0.00000844●●●●●●
155. 78401729 c.1473G>A splice site 0.00000843●●●●●●
156. 78407787 c.1553A>T p.E518V missense 0.00000843●●●●●●
157. 78401545 c.1289A>C p.E430A missense 0.00000842●●●●●●
158. 78401550 c.1294G>A p.E432K missense 0.00000841●●●●●●
159. 78401725 c.1469A>G p.H490R missense 0.00000841●●●●●●
160. 78392577 c.864G>T p.M288I missense 0.00000841●●●●●●
161. 78392578 c.864+1G>A essential splice site 0.00000841●●●●●●
162. 78401557 c.1301T>G p.L434R missense 0.00000840●●●●●●
163. 78407806 c.1572_1574dupAGA p.Glu525dup inframe 0.00000839●●●●●●
164. 78392552 c.839C>G p.A280G missense 0.00000838●●●●●●
165. 78401575 c.1319G>A p.S440N missense 0.00000838●●●●●●
166. 78407816 c.1582G>A p.E528K missense 0.00000837●●●●●●
167. 78394997 c.865-4T>C splice site 0.00000837●●●●●●
168. 78401611 c.1355T>C p.F452S missense 0.00000836●●●●●●
169. 78407893 c.1659G>C p.K553N missense 0.00000836●●●●●●
170. 78383409 c.186_187insAG p.Trp67AsnfsTer25 frameshift 0.00000836●●●●●●
171. 78390909 c.484T>A p.S162T missense 0.00000836●●●●●●
172. 78401631 c.1375T>C p.S459P missense 0.00000836●●●●●●
173. 78392522 c.809C>T p.A270V missense 0.00000836●●●●●●
174. 78407822 c.1588_1589delAG p.Arg530LysfsTer3 frameshift 0.00000836●●●●●●
175. 78401622 c.1366G>A p.G456R missense 0.00000836●●●●●●
176. 78408164 c.1678G>A p.E560K missense 0.00000836●●●●●●
177. 78401603 c.1347_1350delAAGC p.Lys451LeufsTer16 frameshift 0.00000836●●●●●●
178. 78407819 c.1585C>A p.Q529K missense 0.00000836●●●●●●
179. 78392108 c.499G>A p.D167N missense 0.00000836●●●●●●
180. 78392535 c.822_824delAGA p.Glu277del inframe 0.00000836●●●●●●
181. 78407826 c.1592G>A p.R531K missense 0.00000836●●●●●●
182. 78390900 c.475G>C p.E159Q missense 0.00000836●●●●●●
183. 78401644 c.1388T>C p.I463T missense 0.00000835●●●●●●
184. 78392512 c.799G>T p.E267X nonsense 0.00000835●●●●●●
185. 78401713 c.1457C>T p.A486V missense 0.00000835●●●●●●
186. 78395115 c.979A>G p.R327G missense 0.00000835●●●●●●
187. 78401641 c.1385A>T p.E462V missense 0.00000835●●●●●●
188. 78383398 c.175G>C p.E59Q missense 0.00000835●●●●●●
189. 78383408 c.185T>A p.I62N missense 0.00000835●●●●●●
190. 78401668 c.1412G>T p.R471L missense 0.00000834●●●●●●
191. 78407868 c.1634G>A p.R545K missense 0.00000834●●●●●●
192. 78408429 c.1943A>G p.D648G missense 0.00000834●●●●●●
193. 78401665 c.1409A>C p.E470A missense 0.00000834●●●●●●
194. 78401656 c.1400T>C p.I467T missense 0.00000834●●●●●●
195. 78407861 c.1627G>C p.E543Q missense 0.00000834●●●●●●
196. 78407850 c.1616G>A p.R539H missense 0.00000834●●●●●●
197. 78392498 c.785G>T p.R262L missense 0.00000834●●●●●●
198. 78407843 c.1609_1610insA p.Leu537TyrfsTer7 frameshift 0.00000834●●●●●●
199. 78407855 c.1621C>A p.Q541K missense 0.00000834●●●●●●
200. 78407861 c.1627G>A p.E543K missense 0.00000834●●●●●●
201. 78392498 c.785G>A p.R262Q missense 0.00000834●●●●●●
202. 78408408 c.1922T>C p.L641S missense 0.00000834●●●●●●
203. 78392506 c.793C>A p.Q265K missense 0.00000834●●●●●●
204. 78392120 c.511A>G p.I171V missense 0.00000834●●●●●●
205. 78401668 c.1412G>A p.R471Q missense 0.00000834●●●●●●
206. 78395007 c.871G>A p.E291K missense 0.00000834●●●●●●
207. 78407868 c.1634G>C p.R545T missense 0.00000834●●●●●●
208. 78408422 c.1936C>G p.P646A missense 0.00000834●●●●●●
209. 78401706 c.1450C>T p.R484X nonsense 0.00000834●●●●●●
210. 78392126 c.517G>A p.V173M missense 0.00000833●●●●●●
211. 78395011 c.875A>G p.D292G missense 0.00000833●●●●●●
212. 78408384 c.1898G>A p.R633K missense 0.00000833●●●●●●
213. 78408375 c.1889delA p.Tyr630LeufsTer56 frameshift 0.00000833●●●●●●
214. 78392480 c.767G>A p.R256Q missense 0.00000833●●●●●●
215. 78383278 c.55C>T p.P19S missense 0.00000833●●●●●●
216. 78408180 c.1694T>C p.I565T missense 0.00000833●●●●●●
217. 78392491 c.778_779insA p.Asn261LysfsTer7 frameshift 0.00000833●●●●●●
218. 78408392 c.1906A>T p.T636S missense 0.00000833●●●●●●
219. 78408392 c.1906_1909delACTT p.Tyr637AlafsTer48 frameshift 0.00000833●●●●●●
220. 78392129 c.520G>A p.V174I missense 0.00000833●●●●●●
221. 78383276 c.53T>C p.V18A missense 0.00000833●●●●●●
222. 78383387 c.164_167delAAAG p.Arg56GlufsTer34 frameshift 0.00000833●●●●●●
223. 78408369 c.1883A>G p.Y628C missense 0.00000833●●●●●●
224. 78395028 c.892A>G p.T298A missense 0.00000832●●●●●●
225. 78395050 c.914A>G p.Y305C missense 0.00000832●●●●●●
226. 78408199 c.1713_1718delTGAAGA p.Asp573_Glu574del inframe 0.00000832●●●●●●
227. 78395052 c.916C>T p.R306C missense 0.00000832●●●●●●
228. 78395056 c.920C>T p.P307L missense 0.00000832●●●●●●
229. 78395022 c.886C>G p.Q296E missense 0.00000832●●●●●●
230. 78408354 c.1868A>G p.Q623R missense 0.00000832●●●●●●
231. 78383374 c.151A>G p.R51G missense 0.00000832●●●●●●
232. 78408204 c.1718A>C p.D573A missense 0.00000832●●●●●●
233. 78392151 c.542C>T p.T181I missense 0.00000832●●●●●●
234. 78395055 c.919C>A p.P307T missense 0.00000832●●●●●●
235. 78392466 c.753T>G p.F251L missense 0.00000832●●●●●●
236. 78408289 c.1803T>A p.F601L missense 0.00000831●●●●●●
237. 78408206 c.1720G>A p.E574K missense 0.00000831●●●●●●
238. 78408258 c.1772C>T p.T591I missense 0.00000831●●●●●●
239. 78392195 c.586C>A p.R196S missense 0.00000831●●●●●●
240. 78408225 c.1739G>A p.G580E missense 0.00000831●●●●●●
241. 78408209 c.1723G>A p.E575K missense 0.00000831●●●●●●
242. 78392163 c.554T>C p.M185T missense 0.00000831●●●●●●
243. 78383348 c.125G>A p.R42K missense 0.00000831●●●●●●
244. 78408266 c.1780G>A p.V594I missense 0.00000831●●●●●●
245. 78408218 c.1732A>G p.R578G missense 0.00000831●●●●●●
246. 78392166 c.557A>C p.K186T missense 0.00000831●●●●●●
247. 78408272 c.1786A>G p.S596G missense 0.00000831●●●●●●
248. 78408315 c.1829A>G p.K610R missense 0.00000831●●●●●●
249. 78395146 c.1010T>C p.I337T missense 0.00000831●●●●●●
250. 78408231 c.1745C>T p.P582L missense 0.00000831●●●●●●
251. 78392170 c.561G>T p.K187N missense 0.00000831●●●●●●
252. 78408209 c.1723G>C p.E575Q missense 0.00000831●●●●●●
253. 78383335 c.112A>C p.M38L missense 0.00000830●●●●●●
254. 78392413 c.700G>C p.E234Q missense 0.00000830●●●●●●
255. 78383308 c.85G>T p.G29C missense 0.00000830●●●●●●
256. 78392196 c.587G>A p.R196H missense 0.00000830●●●●●●
257. 78383321 c.98A>G p.D33G missense 0.00000830●●●●●●
258. 78392221 c.612C>G p.Y204X nonsense 0.00000830●●●●●●
259. 78383333 c.110C>T p.A37V missense 0.00000830●●●●●●
260. 78392225 c.616G>C p.E206Q missense 0.00000830●●●●●●
261. 78392400 c.688-1G>C essential splice site 0.00000830●●●●●●
262. 78383637 c.220-8C>G splice site 0.00000829●●●●●●
263. 78392255 c.646C>T p.R216X nonsense 0.00000829●●●●●●
264. 78392300 c.687+4A>C splice site 0.00000829●●●●●●
265. 78392242 c.633A>T p.R211S missense 0.00000829●●●●●●
266. 78383680 c.255T>G p.D85E missense 0.00000829●●●●●●
267. 78392256 c.647G>A p.R216Q missense 0.00000829●●●●●●
268. 78383942 c.431C>G p.A144G missense 0.00000829●●●●●●
269. 78383697 c.272A>G p.E91G missense 0.00000829●●●●●●
270. 78383732 c.298+9C>T splice site 0.00000829●●●●●●
271. 78383724 c.298+1G>C essential splice site 0.00000829●●●●●●
272. 78392282 c.673C>T p.L225F missense 0.00000829●●●●●●
273. 78383956 c.445C>G p.Q149E missense 0.00000829●●●●●●
274. 78383721 c.296C>T p.T99I missense 0.00000829●●●●●●
275. 78392249 c.640G>C p.E214Q missense 0.00000829●●●●●●
276. 78392291 c.682G>A p.V228I missense 0.00000829●●●●●●
277. 78392302 c.687+6T>A splice site 0.00000829●●●●●●
278. 78383669 c.244G>C p.D82H missense 0.00000829●●●●●●
279. 78383840 c.329A>G p.E110G missense 0.00000828●●●●●●
280. 78383902 c.391C>G p.Q131E missense 0.00000828●●●●●●
281. 78383885 c.374G>A p.R125Q missense 0.00000828●●●●●●
282. 78383856 c.345G>T p.E115D missense 0.00000828●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.